I’m not in the mood for anything too deep or depressing, so today is just a collection of odds and ends, mostly from Twitter, where I share bits of information at least partly so I can find it later. If you’d like to follow me there to get these tidbits in real time, my Twitter handle is GiniaJo.
In no particular order:
Patients on review boards: This is a brilliant insight from a patient advocate on Twitter, Brian Wallach, “If you are a healthcare publication and you put out a list of people shaping modern medicine and do not include a single patient advocate not only is your list worthless it perpetuates the myth that patients are helpless people that the system is charge of. Do better.” Related to that truth, we need to have patient representation on medical/scientific journal editorial boards (so publications won’t keep forgetting about the patient perspective), and IRBs (Institutional Review Boards that check research protocols for ethical issues, some of which aren’t apparent to anyone outside the patient community), and peer-review boards (to make sure journal articles aren’t inadvertently harming patients).
Third XLH Symposium in Europe: The XLH Alliance just announced its third (I can’t believe so much time has passed since the Alliance’s inception!) XLH symposium, to be held in Dublin on July 1, the day before the International Conference on Children’s Bone Health, held in the same location. The programme looks fabulous, including sessions on my favorite old topic (complications “beyond rickets”) and my favorite new topic (gene therapy).
Patients in Ukraine: I’ve been really impressed by the work being done by patient groups to help their communities in Ukraine, where, for obvious reasons, health care and access to life-saving treatments are interrupted. One rare bone disorder’s group, the Osteogenesis Imperfecta Federation in Europe (OIFE), has been working with its Ukrainian member organization, and released a statement on how to help their community there. They have a great list of concrete actions you can take to help the Ukrainian people in general, even though OIFE, like the rest of us, are unable to do anything to help specific people or patients.
Travel for health care: A brilliant bit of patient-focused research from AllStripes (a registry/natural-history platform) looked into the distance that patients with a particular group of rare disorders had to travel to get health care, and concluded that it “dramatically” exceeded the U.S. average. I’m pretty sure that’s true for most rare disorders, but few have the data to prove it. I’d love to see this research duplicated for chronic hypophosphatemia. It’s been a while since I’ve looked into where the specialists are for XLH, but as of 2018, there were no known specialists in the entire state of Florida (and several other less-populated states) who were qualified and/or willing to treat adults with XLH (although, fortunately, there are a few for kids). Based on the state’s population (21 million) and assuming three-quarters of the population are adults (1.575 million), and the prevalence of XLH (1 in 20,000), there are likely to be around 80 adult XLHers in the state, with no one to provide adequate treatment.
Common experience across disorders: I’m always quoting from the Symposium on Hypophosphatemia, where one patient said he didn’t know how bad he felt until he started to feel better with burosumab treatment. I suspect that’s something that many rare disorder patients have in common, that we don’t know what normal feels like. Here’s an example, shared by Deanna Portero (highly recommend following her for information on gene/cell therapy): from a patient who was one of the first to get gene-editing treatment for sickle cell: “It’s like being born again,” he says. “When I look back, it’s like, Wow, I can’t believe I lived with that.” That’s how I felt recently (in reverse) when, for the first time in close to six years, my blood phosphate levels dropped below normal, and I had all-over bone pain; I couldn’t believe I’d lived like that for so long before burosumab, without consciously noticing it!
XLH pamphlet in Spanish: And finally, from things I’ve posted recently on my LinkedIn account (where you can connect to me if you’d like to see what I share there, often cross-posted from Twitter): if you speak Spanish or know someone who needs information about XLH in Spanish, check out (or forward) this pamphlet from Kyowa Kirin. Caveat: I don’t read more than a few words of Spanish, so can’t personally vouch for its accuracy, but I trust Kyowa Kirin to get the facts correct.)
***
Please note that the author is a well-read patient, not a doctor, and is not offering medical or legal advice.
If you’d prefer to read this blog as a newsletter, sent straight to your inbox, please sign up here.